ClinVar Miner

List of variants studied for Pontoneocerebellar hypoplasia by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 227
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HGVS dbSNP gnomAD frequency
NM_207346.3(TSEN54):c.1122G>C (p.Arg374=) rs6501820 0.89534
NM_001077446.4(TSEN34):c.795= (p.Pro265=) rs7595 0.80164
NM_001077446.4(TSEN34):c.*497= rs36621 0.80151
NM_207346.3(TSEN54):c.1310C>T (p.Ala437Val) rs8064529 0.63819
NM_006416.5(SLC35A1):c.*302A>G rs1051131 0.61356
NM_006416.5(SLC35A1):c.*648T>G rs1051148 0.61316
NM_207346.3(TSEN54):c.12G>T (p.Glu4Asp) rs7216673 0.60248
NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn) rs9911502 0.58492
NM_025265.4(TSEN2):c.-209G>T rs709161 0.56522
NM_025265.4(TSEN2):c.*292G>T rs299643 0.50169
NM_207346.3(TSEN54):c.114T>G (p.His38Gln) rs8079373 0.19277
NM_207346.3(TSEN54):c.285+3G>A rs8074291 0.19227
NM_207346.3(TSEN54):c.333C>G (p.Arg111=) rs6501818 0.19222
NM_020320.5(RARS2):c.1704A>G (p.Lys568=) rs8802 0.12189
NM_006416.5(SLC35A1):c.887-14T>C rs56136150 0.10768
NM_207346.3(TSEN54):c.409A>C (p.Ile137Leu) rs11559205 0.09934
NM_207346.3(TSEN54):c.1166A>C (p.Gln389Pro) rs77247739 0.09564
NM_025265.4(TSEN2):c.-391G>A rs3806662 0.09194
NM_025265.4(TSEN2):c.377G>A (p.Arg126His) rs33955793 0.07115
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4]) rs398124622 0.06994
NM_025265.4(TSEN2):c.162G>A (p.Ala54=) rs78685815 0.06643
NM_207346.3(TSEN54):c.1573G>C (p.Gly525Arg) rs11870627 0.05898
NM_207346.3(TSEN54):c.1447C>G (p.Pro483Ala) rs62088470 0.04801
NM_207346.3(TSEN54):c.568G>A (p.Val190Met) rs79508780 0.04141
NM_024075.4(TSEN34):c.*1177G>T rs78711269 0.03779
NM_006416.5(SLC35A1):c.*147C>T rs55960393 0.03465
NM_001077446.4(TSEN34):c.*928A>G rs144441443 0.02975
NM_001077446.4(TSEN34):c.*1128G>T rs79447697 0.02881
NM_207346.2(TSEN54):c.*331T>A rs150621720 0.02560
NM_001077446.4(TSEN34):c.*29G>A rs2289145 0.02347
NM_001077446.4(TSEN34):c.688C>A (p.Arg230=) rs11879943 0.02345
NM_025265.4(TSEN2):c.639T>C (p.Asp213=) rs3796329 0.02309
NM_025265.4(TSEN2):c.327G>A (p.Glu109=) rs77899976 0.02296
NM_024075.4(TSEN34):c.*1176A>T rs78793520 0.02245
NM_025265.4(TSEN2):c.963G>A (p.Glu321=) rs17036879 0.01671
NM_207346.3(TSEN54):c.624-9G>A rs138719855 0.01485
NM_006416.5(SLC35A1):c.*240G>T rs9450722 0.01462
NM_025265.4(TSEN2):c.1350G>A (p.Leu450=) rs116627250 0.01389
NM_207346.3(TSEN54):c.1468C>T (p.Arg490Trp) rs144662042 0.01362
NM_001077446.4(TSEN34):c.*688T>A rs115025822 0.01302
NM_025265.4(TSEN2):c.-220G>A rs182837891 0.01211
NM_025265.4(TSEN2):c.-199G>T rs41293381 0.01068
NM_016955.4(SEPSECS):c.*371_*372del rs143987218 0.01024
NM_207346.3(TSEN54):c.1328C>G (p.Ser443Cys) rs150169668 0.01002
NM_001077446.4(TSEN34):c.*815G>A rs36620 0.00944
NM_025265.4(TSEN2):c.108A>G (p.Glu36=) rs77258715 0.00898
NM_001077446.4(TSEN34):c.*175T>C rs77548142 0.00549
NM_024075.5(TSEN34):c.-5+15G>A rs141003293 0.00497
NM_001077446.4(TSEN34):c.334C>G (p.Leu112Val) rs17849378 0.00493
NM_001077446.4(TSEN34):c.*109A>G rs181231588 0.00482
NM_003384.2(VRK1):c.-110C>T rs77630815 0.00455
NM_001077446.4(TSEN34):c.*1053G>A rs182704571 0.00428
NM_025265.4(TSEN2):c.*78G>A rs735640 0.00427
NM_001077446.4(TSEN34):c.39G>A (p.Val13=) rs184898622 0.00426
NM_024075.5(TSEN34):c.-95A>G rs115290127 0.00390
NM_025265.4(TSEN2):c.272-4C>G rs41293385 0.00369
NM_025265.4(TSEN2):c.-20G>A rs9871742 0.00345
NM_207346.3(TSEN54):c.*169T>C rs111972085 0.00317
NM_025265.4(TSEN2):c.1389C>T (p.Asp463=) rs75288720 0.00287
NM_001077446.4(TSEN34):c.*865A>G rs187570218 0.00272
NM_025265.4(TSEN2):c.-173C>T rs76012118 0.00250
NM_207346.3(TSEN54):c.1167G>C (p.Gln389His) rs369805010 0.00193
NM_001077446.4(TSEN34):c.*993C>T rs535031564 0.00192
NM_025265.4(TSEN2):c.*419A>G rs139545175 0.00176
NM_207346.3(TSEN54):c.*282T>A rs191410134 0.00158
NM_001077446.4(TSEN34):c.*496T>A rs190495812 0.00130
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu) rs201089582 0.00116
NM_025265.4(TSEN2):c.405G>A (p.Pro135=) rs140728375 0.00090
NM_025265.4(TSEN2):c.-353G>T rs1023680154 0.00086
NM_207346.3(TSEN54):c.285+12G>A rs373044979 0.00080
NM_207346.3(TSEN54):c.1368C>T (p.Asp456=) rs138560086 0.00075
NM_025265.4(TSEN2):c.1248+15G>C rs200663602 0.00073
NM_207346.3(TSEN54):c.692C>T (p.Pro231Leu) rs141249409 0.00070
NM_025265.4(TSEN2):c.1332A>G (p.Lys444=) rs113981920 0.00066
NM_025265.4(TSEN2):c.990A>G (p.Lys330=) rs113260160 0.00063
NM_001077446.4(TSEN34):c.*1046T>C rs553497009 0.00062
NM_207346.3(TSEN54):c.767G>A (p.Gly256Asp) rs200683263 0.00061
NM_025265.4(TSEN2):c.522C>T (p.Asn174=) rs141580750 0.00059
NM_207346.3(TSEN54):c.325C>G (p.Arg109Gly) rs148146916 0.00053
NM_001077446.4(TSEN34):c.392C>T (p.Ser131Leu) rs202245444 0.00050
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met) rs200434678 0.00045
NM_025265.4(TSEN2):c.1013C>G (p.Thr338Arg) rs145142315 0.00038
NM_025265.4(TSEN2):c.322G>T (p.Val108Phe) rs202097247 0.00037
NM_001077446.4(TSEN34):c.230G>C (p.Arg77Pro) rs200004897 0.00034
NM_207346.3(TSEN54):c.984T>C (p.Ala328=) rs776960594 0.00028
NM_025265.4(TSEN2):c.*475C>T rs145812749 0.00027
NM_025265.4(TSEN2):c.309G>A (p.Arg103=) rs148549222 0.00026
NM_001077446.4(TSEN34):c.314G>A (p.Arg105Gln) rs138586360 0.00024
NM_025265.4(TSEN2):c.-201C>T rs776511215 0.00024
NM_001077446.4(TSEN34):c.*692A>G rs886054627 0.00021
NM_025265.4(TSEN2):c.*430G>A rs145164317 0.00020
NM_207346.3(TSEN54):c.1079C>T (p.Ala360Val) rs368377822 0.00019
NM_001077446.4(TSEN34):c.*948C>T rs886054629 0.00017
NM_025265.4(TSEN2):c.*458C>T rs559783669 0.00016
NM_025265.4(TSEN2):c.872A>G (p.Tyr291Cys) rs140979604 0.00016
NM_003384.2(VRK1):c.-81C>T rs886050948 0.00014
NM_025265.4(TSEN2):c.1029C>T (p.Tyr343=) rs371073764 0.00014
NM_025265.4(TSEN2):c.-355C>T rs886057905 0.00010
NM_025265.4(TSEN2):c.748G>A (p.Asp250Asn) rs757172883 0.00009
NM_207346.3(TSEN54):c.862G>A (p.Val288Ile) rs199682817 0.00009
NM_025265.4(TSEN2):c.*56A>T rs749423706 0.00008
NM_025265.4(TSEN2):c.635A>C (p.Glu212Ala) rs201734805 0.00008
NM_207346.3(TSEN54):c.1452C>T (p.Asp484=) rs767631739 0.00008
NM_001077446.4(TSEN34):c.*458C>T rs905318412 0.00006
NM_025265.4(TSEN2):c.*211C>T rs886057911 0.00006
NM_025265.4(TSEN2):c.1104A>G (p.Leu368=) rs761076607 0.00006
NM_025265.4(TSEN2):c.870A>G (p.Pro290=) rs542708828 0.00006
NM_001077446.4(TSEN34):c.5T>C (p.Leu2Pro) rs778510316 0.00005
NM_025265.4(TSEN2):c.389A>C (p.Lys130Thr) rs142211875 0.00005
NM_207346.3(TSEN54):c.1030C>T (p.Arg344Cys) rs759944703 0.00005
NM_207346.3(TSEN54):c.1430+5G>A rs367823640 0.00005
NM_025265.4(TSEN2):c.-222G>A rs533687592 0.00004
NM_025265.4(TSEN2):c.1048C>T (p.Arg350Ter) rs201467485 0.00004
NM_025265.4(TSEN2):c.768G>A (p.Glu256=) rs200009549 0.00004
NM_207346.3(TSEN54):c.1430+4C>T rs202109896 0.00004
NM_001077446.4(TSEN34):c.*358T>C rs762136353 0.00003
NM_001077446.4(TSEN34):c.675A>G (p.Arg225=) rs375366303 0.00003
NM_025265.4(TSEN2):c.1249-12A>G rs370637450 0.00003
NM_207346.3(TSEN54):c.*167T>C rs886053401 0.00003
NM_207346.3(TSEN54):c.1415G>A (p.Arg472Gln) rs151332020 0.00003
NM_207346.3(TSEN54):c.176G>A (p.Arg59Gln) rs886043563 0.00003
NM_001077446.4(TSEN34):c.*999A>G rs1437168457 0.00002
NM_001077446.4(TSEN34):c.262C>T (p.Arg88Cys) rs758855323 0.00002
NM_001077446.4(TSEN34):c.274G>C (p.Glu92Gln) rs200274242 0.00002
NM_001077446.4(TSEN34):c.591C>G (p.Ala197=) rs781446570 0.00002
NM_025265.4(TSEN2):c.-160C>G rs372043523 0.00002
NM_025265.4(TSEN2):c.-224G>C rs1175377888 0.00002
NM_025265.4(TSEN2):c.491C>T (p.Thr164Ile) rs1178412243 0.00002
NM_025265.4(TSEN2):c.845A>G (p.Asn282Ser) rs202056552 0.00002
NM_025265.4(TSEN2):c.961-14G>A rs748777382 0.00002
NM_207346.3(TSEN54):c.1205G>T (p.Gly402Val) rs1383991855 0.00002
NM_207346.3(TSEN54):c.1385G>A (p.Arg462Gln) rs778218563 0.00002
NM_207346.3(TSEN54):c.867G>A (p.Thr289=) rs751120868 0.00002
NM_001077446.4(TSEN34):c.*758T>G rs989200379 0.00001
NM_001077446.4(TSEN34):c.*836C>T rs1476835074 0.00001
NM_001077446.4(TSEN34):c.*94C>T rs886054626 0.00001
NM_001077446.4(TSEN34):c.153G>A (p.Leu51=) rs1276930053 0.00001
NM_001077446.4(TSEN34):c.397G>C (p.Ala133Pro) rs767815202 0.00001
NM_001077446.4(TSEN34):c.765C>T (p.His255=) rs148706818 0.00001
NM_001077446.4(TSEN34):c.786C>T (p.Cys262=) rs749845322 0.00001
NM_025265.4(TSEN2):c.*95T>C rs528422124 0.00001
NM_025265.4(TSEN2):c.-105A>G rs770631241 0.00001
NM_025265.4(TSEN2):c.-13C>T rs780952847 0.00001
NM_025265.4(TSEN2):c.-18+10G>A rs886057908 0.00001
NM_025265.4(TSEN2):c.105A>G (p.Lys35=) rs777378178 0.00001
NM_025265.4(TSEN2):c.119T>G (p.Phe40Cys) rs138662263 0.00001
NM_025265.4(TSEN2):c.1233C>T (p.Ser411=) rs747491166 0.00001
NM_025265.4(TSEN2):c.657T>C (p.His219=) rs754200115 0.00001
NM_025265.4(TSEN2):c.700C>T (p.Leu234Phe) rs760813133 0.00001
NM_207346.3(TSEN54):c.1067A>G (p.His356Arg) rs1221250692 0.00001
NM_207346.3(TSEN54):c.1070C>T (p.Ala357Val) rs760089379 0.00001
NM_207346.3(TSEN54):c.1486G>A (p.Gly496Arg) rs886053400 0.00001
NM_207346.3(TSEN54):c.367T>A (p.Cys123Ser) rs1484028244 0.00001
NM_207346.3(TSEN54):c.369+5G>A rs756343304 0.00001
NM_207346.3(TSEN54):c.745A>C (p.Ser249Arg) rs761784110 0.00001
NM_207346.3(TSEN54):c.821G>A (p.Gly274Glu) rs1460815000 0.00001
NM_001077446.4(TSEN34):c.*1078del rs886054630
NM_001077446.4(TSEN34):c.*1163C>G rs115093373
NM_001077446.4(TSEN34):c.*199A>T rs527437622
NM_001077446.4(TSEN34):c.*245A>C rs4042
NM_001077446.4(TSEN34):c.*276G>C rs1281858067
NM_001077446.4(TSEN34):c.*384G>C rs1052800195
NM_001077446.4(TSEN34):c.*385= rs1156850349
NM_001077446.4(TSEN34):c.*385A>C rs36622
NM_001077446.4(TSEN34):c.*385A>T rs36622
NM_001077446.4(TSEN34):c.*842T>G rs569859820
NM_001077446.4(TSEN34):c.*849AT[3] rs746578183
NM_001077446.4(TSEN34):c.*863G>A rs920714892
NM_001077446.4(TSEN34):c.183C>A (p.Ala61=) rs886054624
NM_001077446.4(TSEN34):c.289C>T (p.Gln97Ter) rs1568849876
NM_001077446.4(TSEN34):c.294C>T (p.Ser98=) rs770587931
NM_001077446.4(TSEN34):c.687G>A (p.Glu229=) rs886054625
NM_001077446.4(TSEN34):c.73C>T (p.Arg25Cys) rs1307925755
NM_001077446.4(TSEN34):c.95C>A (p.Thr32Lys) rs770199288
NM_001077446.4(TSEN34):c.96G>T (p.Thr32=) rs931778585
NM_003384.3(VRK1):c.261C>T (p.Tyr87=) rs748309797
NM_006416.5(SLC35A1):c.*294dup rs11432150
NM_006416.5(SLC35A1):c.*521_*522insAATG rs10681831
NM_016042.4(EXOSC3):c.*571TAT[1] rs34753153
NM_016955.3(SEPSECS):c.-143_-139TTTTG[4] rs779134137
NM_016955.3(SEPSECS):c.-147_-146dup rs536637971
NM_016955.3(SEPSECS):c.-147dup rs536637971
NM_016955.3(SEPSECS):c.-160C>T rs111926440
NM_016955.4(SEPSECS):c.*236_*237insTTT rs140928773
NM_016955.4(SEPSECS):c.*254_*257del rs577008196
NM_016955.4(SEPSECS):c.*3402AAT[1] rs886059339
NM_016955.4(SEPSECS):c.269+9_269+12del rs748765764
NM_020320.5(RARS2):c.1439G>A (p.Gly480Glu) rs760844669
NM_024075.4(TSEN34):c.-175C>A rs886054622
NM_024075.5(TSEN34):c.-41G>A rs886054623
NM_025265.4(TSEN2):c.*106A>G rs1276816567
NM_025265.4(TSEN2):c.*198A>G rs551722010
NM_025265.4(TSEN2):c.*19C>T rs1274814643
NM_025265.4(TSEN2):c.*448C>G rs886057912
NM_025265.4(TSEN2):c.-130T>C rs886057907
NM_025265.4(TSEN2):c.-200C>T rs540294443
NM_025265.4(TSEN2):c.-219C>G rs886057906
NM_025265.4(TSEN2):c.-293A>G rs1486288895
NM_025265.4(TSEN2):c.-297C>T rs190941859
NM_025265.4(TSEN2):c.-373C>T rs550947754
NM_025265.4(TSEN2):c.-374G>A rs28657473
NM_025265.4(TSEN2):c.-382A>C rs886057904
NM_025265.4(TSEN2):c.-91A>C rs866706372
NM_025265.4(TSEN2):c.122G>A (p.Arg41His) rs12495784
NM_025265.4(TSEN2):c.1255A>C (p.Met419Leu) rs370820344
NM_025265.4(TSEN2):c.560G>C (p.Arg187Pro) rs146117200
NM_025265.4(TSEN2):c.604A>T (p.Thr202Ser) rs886057909
NM_025265.4(TSEN2):c.680C>T (p.Ala227Val) rs886057910
NM_025265.4(TSEN2):c.704A>G (p.His235Arg) rs769122669
NM_207346.3(TSEN54):c.*224G>T rs2053484029
NM_207346.3(TSEN54):c.1043T>A (p.Leu348His) rs886053397
NM_207346.3(TSEN54):c.1111G>A (p.Glu371Lys) rs398124621
NM_207346.3(TSEN54):c.1120C>G (p.Arg374Gly) rs201351319
NM_207346.3(TSEN54):c.1163G>C (p.Arg388Pro) rs796181199
NM_207346.3(TSEN54):c.1209G>C (p.Gln403His) rs886053398
NM_207346.3(TSEN54):c.1252+6C>G rs977124000
NM_207346.3(TSEN54):c.1381T>C (p.Phe461Leu) rs767683456
NM_207346.3(TSEN54):c.13C>T (p.Pro5Ser) rs886053394
NM_207346.3(TSEN54):c.1418T>A (p.Met473Lys) rs2053460545
NM_207346.3(TSEN54):c.1530C>A (p.Ile510=) rs754461779
NM_207346.3(TSEN54):c.16G>C (p.Glu6Gln) rs1377971286
NM_207346.3(TSEN54):c.285+9C>G rs200318170
NM_207346.3(TSEN54):c.286-8C>T rs886053395
NM_207346.3(TSEN54):c.521+9C>G rs753458014
NM_207346.3(TSEN54):c.536C>G (p.Pro179Arg) rs376310114
NM_207346.3(TSEN54):c.663G>A (p.Leu221=) rs886053396
NM_207346.3(TSEN54):c.894C>G (p.Phe298Leu) rs564262300

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